Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation BEFREE Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation BEFREE Germline CDKN2A mutations were detected in 10 of 304 SPM (3·3%), in four of seven MPM (57%) and in two of nine FM (22%) cases. 21801156

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer. 21619050

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 Biomarker BEFREE To this end, we have developed a multiplex bead-based assay for high-throughput CDKN2A/CDK4 genotyping in the context of familial melanoma. 21085193

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation BEFREE We sequenced the exons and intron-exon boundaries of PALB2 in probands from 53 families with familial melanoma where CDKN2A mutations were absent. 21153565

2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. 20539244

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation BEFREE Novel and recurrent p14 mutations in Italian familial melanoma. 20132244

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. 20539244

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation BEFREE Twenty one patients with clinical criteria of hereditary melanoma (early onset, presence of multiple primary melanoma, and/or one or more affected first- or second-degree relatives) and previously screened for CDKN2A mutations were genotyped by IGF2/ApaI and H19/RsaI PCR-RFLPs. 20483645

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations. 19759551

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. 20876876

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations. 19759551

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation. 19712690

2009
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer. 19571771

2009